Human Phenotype Ontology 
Grandparent Node:
expandBicuspid aortic valve (HP:0001647)help
Parent Node:
expandSingle raphe bicuspid aortic valve (HP:0031118)help
..Starting node
..expandBicuspid aortic valve with right-left cusp fusion (HP:0031119)help
Term ID: 31119
Name: Bicuspid aortic valve with right-left cusp fusion
Synonym:
Definition: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.
Comments:
Reference: HP:0031119
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBicuspid aortic valve with left-noncoronary cusp fusion (HP:0031121) help
..expandBicuspid aortic valve with right-noncoronary cusp fusion (HP:0031120) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031119HP:0031119Bicuspid aortic valve with right-left cusp fusion0 CL E G H


Genes (0) :

Diseases (0) :
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.